ESPE Abstracts

Background: Steroid hormones produced by the human fetal adrenals (HFA) are suggested to regulate intrauterine homeostasis and the maturation of certain fetal organs necessary for extrauterine life. Appropriate development and hormonal function of the HFA therefore are critical for normal fetal maturation and survival. Little is known about the possible relationship between the expression of steroidogenic enzymes and corresponding transcription factors in the HFA in vivo</...

Background: Silver-Russell syndrome (SRS) is characterized by intrauterine and postnatal growth retardation, relative macrocephaly at birth, prominent forehead, severe feeding difficulties and body asymmetry. In around 50%, it is secondary to hypomethylation at the IGF2/H19 imprinted locus on 11p15 (11p15 LOM), and in 10% to a maternal disomy of chromosome 7 (mUPD7). Mechanisms of postnatal growth failure in SRS are not well understood.Objective and hypo...

The aim of this study was to assess the impact of meal size on glycemic control for T1D adolescent patients equipped with Diabeloop’s Closed Loop, DBLG1 System[1], based on data from the clinical trial NCT04190277. Among this dataset we isolated 37 adolescents. Only days with ≥70% available CGM data and >50% of time in closed-loop were included in the analysis, resulting in an average duration of 18 days per patient for a total of 668 days of treatment. To asses...

Introduction: PTEN hamartoma tumor syndrome (PHTS) is a rare genetic disorder caused by germline mutations in the tumor suppressor gene Phosphatase and tensin homologue (PTEN), a negative regulator of the phosphoinositide-3 kinase (PI3K)/AKT/ mechanistic target of rapamycin (mTOR) pathway. Children with PHTS frequently develop adipose tissue overgrowth, so called lipomas that can lead to loss of organ function due to displacing lipoma growth. Currently, except...

Introduction: The leptin-melanocortin pathway plays a key-role in weight control. Pathogenic variants in the five major genes (LEP, LEPR, POMC, PCSK1, MC4R) are associated with early severe obesity. However, the specific associated phenotype with presence of mono-allelic variants and especially BMI trajectories are not well known.Objective: In order to identify specific profiles, we compared BMI trajectories during the f...

Background and Aim: Pediatric patients with germline mutations in the phosphatase and tensin homolog (Pten) gene frequently develop aberrant adipose tissue growth called lipomas. In severe cases, recurrent lipoma formation can have adverse effects on organ function and quality of life. Due to the lack of understanding the basis of lipoma development, no systemic treatment options are available. We therefore aimed to characterize an already described lipoma bea...

Background: Bone development and remodeling are controlled by the phosphoinositid-3-kinase (PI3K) signaling pathway. We investigated the effects of downregulation of phosphatase and tensin homolog (Pten), a negative regulator of PI3K signaling, in osteoprogenitor cells.Methods: Femura, tibiae and bone marrow stromal cells (BMSCs) from mice with Cre-inducible Pten knockdown in cells expressing the transcription factor Ost...

Introduction: Congenital adrenal hyperplasia is the most common cause of primary adrenal insufficiency. It is a rare monogenic recessive disorder. In African setting in absence of neonatal screening, the diagnosis is still late, based on a clinical approach. During this clinical enquiry, information form past history or pedigree of the patient are of a huge importance and may revealed surprisesPatients and methods: In th...

Background: IGF1R is a keystone of foetal growth regulation by mediating the effects of both IGF-I and IGF-II. Recently the first clinical cohort of patients carrying an IGF1R defect has been reported from which a clinical score was established for diagnosis. Since no external validation of this score is available we assessed it in a large cohort of patients with identified IGF1R defects. Furthermore we aim at setting-up a functional test to ...

The Silver-Russel syndrome (SRS) is characterized by an intrauterine growth retardation accompanied by postnatal growth deficiency. Affected individuals typically have proportionately short statue, finger deformities as well as typical facial features. About 10% of individuals with SRS have maternal uniparental disomy for chromosome 7 (UPD7) and 35%–50% showed hypomethylation of the parental imprinting center region 1 (ICR1) of chromosome 11p15.5. In the recent past also ...